| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1949 | ABHD16A | Zornitza Stark Marked gene: ABHD16A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1949 | ABHD16A | Zornitza Stark Gene: abhd16a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1949 | ABHD16A | Zornitza Stark Phenotypes for gene: ABHD16A were changed from seizures; myoclonic seizures; developmental delay to Spastic paraplegia 86, autosomal recessive, MIM# 619735; seizures; myoclonic seizures; developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1948 | ABHD16A | Zornitza Stark Classified gene: ABHD16A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1948 | ABHD16A | Zornitza Stark Gene: abhd16a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1947 | ABHD16A | Zornitza Stark reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1947 | ABHD16A |
John Coleman changed review comment from: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. Sources: Literature; to: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. ?Moderate Sources: Literature |
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| Genetic Epilepsy v0.1947 | ABHD16A |
John Coleman changed review comment from: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. Sources: Literature; to: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions. ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. Sources: Literature |
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| Genetic Epilepsy v0.1947 | ABHD16A |
John Coleman gene: ABHD16A was added gene: ABHD16A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to (PMID: 34587489,34489854; 32462874) Phenotypes for gene: ABHD16A were set to seizures; myoclonic seizures; developmental delay Penetrance for gene: ABHD16A were set to Incomplete Review for gene: ABHD16A was set to RED Added comment: 11 individuals from 6 families with loss of function, bi-allelic variants in ABHD16A. 2 unrelated families (1 French-Canadian, 1 Armenian) with different homozygous variants have seizures reported. 1 patient with myoclonic seizure type reported. No direct phenotype for other patient. Immunoblot from the fibroblasts demonstrated recued ABHD16A for these families. Strong neurodevelopmental phenotype. Other paper with Homozygotes family 1 of 4 individuals presenting with febrile convulsions ABHD16A is a phospholipase that converts PS to Lyso PS. It is present in all cell types but most abundant in neurological tissue and involved in a key process of neurophysiology. Present in callosome, intellectual disability and HSP panels. Sources: Literature |
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